(1992) The dystrophin-related protein, utrophin, is expressed on the sarcolemma of regenerating human skeletal muscle fibres in dystrophies and inflammatory myopathies. Neuromuscul. Disord., 3, 177 -184.Helliwell, T. R., Man, N. T., Morris, G. E. & Davies, K. E. The dystrophin-...
Body-wide gene therapy of Duchenne muscular dystrophy in the mdx mouse model Duchenne muscular dystrophy is an X-linked muscle disease characterized by mutations in the dystrophin gene. Many of these can be corrected at the posttran... Denti, MA,A Rosa,G D'Antona,... - 《Proceedings of ...
Analysis of the exon-intron organization of the human dystrophin gene has been hampered by its enormous size. By using a YAC-based exon mapping approach and long PCR, we have succeeded in defining the size of the gene and its organization. Our results, compared with data on the distribution...
DYSTROPHIN genesDYSTROPHIN geneticsCOGNITIVE abilityMISSENSE mutationHUMAN missense mutationThe aim of our study is to investigate whether single-nucleotide gene () variants associate with variability in cognitive functions in healthy populations. The study included 1240 participants from the Erasmus Rucphen ...
Dystrophin is localized, in normal muscle fibers, on the cytoplasmic surface of the sarcolemma. The function of this protein is not known but, according to
Nucleocytoplasmic shuttling of the Duchenne muscular dystrophy gene product dystrophin Dp71d is dependent on the importin α/β and \\{CRM1\\} nuclear tran... Even though the Duchenne muscular dystrophy (DMD) gene product Dystrophin Dp71d is involved in various key cellular processes through its...
It is caused by lack of the protein dystrophin in muscle cells as a result of a recessive genetic mutation on the X chromosome. [After Guillaume B.A. Duchenne (1806-1875), French physician.] American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by ...
The genetic basis of DMD and BMD indicates that DMD is a good target for gene therapy through returning the reading frame of dystrophin gene. Gene therapy strategies described here may apply to many other genetic diseases. Wider application of TALENs in gene therapy have the potential to ...
It is also possible that the first exon of Dp116/G-utrophin (which lies in intron 55 of the dystrophin and utrophin genes) was also duplicated in this event, and gave rise to the first coding exon (exon 3) of the DRP2 gene, though no similarity is expected to remain. It is notable...
He was found to have a large deletion in the gene, involving exons 45-55. This is the first report on a Japanese XLDCM patient with a mutation in the central hot-spot region of this gene. 展开 关键词: dystrophinopathy congestive heart failure creatine phosphokinase genetic analysis ...